Aicardi-Goutières syndrome.

@article{Crow2013AicardiGoutiresS,
  title={Aicardi-Gouti{\`e}res syndrome.},
  author={Yanick J Crow},
  journal={Handbook of clinical neurology},
  year={2013},
  volume={113},
  pages={
          1629-35
        }
}
Aicardi-Goutières syndrome (AGS) is a genetically determined encephalopathy demonstrating phenotypic overlap both with the sequelae of congenital infection and with systemic lupus erythematosus (SLE). Recent molecular advances have revealed that AGS can be caused by mutations in any one of five genes, most commonly on a recessive basis but occasionally as a dominant trait. Like AGS, SLE is associated with a perturbation of type I interferon metabolism. Interestingly then, heterozygous mutations… CONTINUE READING

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